COSMIC:
COSM428715 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43724722 (NFE)
Genomes Max Group AF
0.43500055 (NFE)
Exomes Max Group AF
0.43716028 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1288726C>T , CM000673.2:g.1288726C>T | GRCh38 |
| NC_000011.9:g.1309956C>T , CM000673.1:g.1309956C>T | GRCh37 |
| NC_000011.8:g.1266532C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317204.11:c.417G>A MANE Select | ENSP00000314733.5:p.Pro139= | |
| ENST00000263646.11:c.333G>A | ENSP00000263646.6:p.Pro111= | |
| ENST00000317204.10:c.417G>A | ENSP00000314733.5:p.Pro139= | |
| ENST00000525159.5:c.234G>A | ENSP00000432668.1:p.Pro78= | |
| ENST00000527886.5:c.210G>A | ENSP00000434035.1:p.Pro70= | |
| ENST00000527938.5:c.183+6919G>A | ENSP00000432778.1:n.183+6919G>A | |
| ENST00000528719.1:n.579G>A | ||
| ENST00000530506.5:c.267G>A | ENSP00000436393.1:p.Pro89= | |
| ENST00000530541.1:c.267G>A | ENSP00000434494.1:p.Pro89= | |
| NM_019009.3:c.417G>A | NP_061882.2:p.Pro139= | |
| XM_011520192.1:c.210G>A | XP_011518494.1:p.Pro70= | |
| NM_001318512.1:c.267G>A | NP_001305441.1:p.Pro89= | |
| NM_001318514.1:c.210G>A | NP_001305443.1:p.Pro70= | |
| NM_001318515.1:c.183+6919G>A | NP_001305444.1:n.183+6919G>A | |
| NM_001318516.1:c.234G>A | NP_001305445.1:p.Pro78= | |
| XM_017017931.1:c.39G>A | XP_016873420.1:p.Pro13= | |
| XR_001747910.2:n.1873G>A | ||
| NM_019009.4:c.417G>A MANE Select | NP_061882.2:p.Pro139= | |
| NM_001318512.2:c.267G>A | NP_001305441.1:p.Pro89= | |
| NM_001318515.2:c.183+6919G>A | NP_001305444.1:n.183+6919G>A | |
| NM_001318516.2:c.234G>A | NP_001305445.1:p.Pro78= | |
| NM_001318514.2:c.210G>A | NP_001305443.1:p.Pro70= |